Gene

stxbp1b

ID

ZDB-GENE-060531-166

Name

syntaxin binding protein 1b

Symbol

stxbp1b Nomenclature History

Previous Names

si:rp71-10d23.3

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Predicted to enable syntaxin-1 binding activity. Predicted to be involved in intracellular protein transport; presynaptic dense core vesicle exocytosis; and vesicle docking involved in exocytosis. Predicted to act upstream of or within vesicle-mediated transport. Predicted to be active in plasma membrane and secretory granule. Is expressed in bone tissue; brain; and retina. Used to study early infantile epileptic encephalopathy and epilepsy. Human ortholog(s) of this gene implicated in West syndrome and developmental and epileptic encephalopathy 4. Orthologous to human STXBP1 (syntaxin binding protein 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With stxbp1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 4	Alliance	Developmental and epileptic encephalopathy 4	612164

Associated With stxbp1b Via Experimental Models

Human Disease	Fish	Conditions	Citations
epilepsy	stxbp1b^s3038/s3038	standard conditions	Griffin et al., 2021
early infantile epileptic encephalopathy	stxbp1b^s3001/s3001 (WIK)	standard conditions	Grone et al., 2016

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR001619	Sec1-like protein
Homologous_superfamily	IPR027482	Sec1-like, domain 2
Homologous_superfamily	IPR036045	Sec1-like superfamily
Homologous_superfamily	IPR043127	Sec1-like, domain 3a
Homologous_superfamily	IPR043154	Sec1-like, domain 1